Medical Concerns

Most children who are diagnosed with 22q Deletion Syndrome before or
right after birth are examined by a doctor(s) to determine if there are any
specific health concerns such as heart disease, kidney problems, palate
abnormalities, low calcium levels, or immune system abnormalities. Some
newborns may show signs of one or more of these problems whereas others will
not. If these examinations do not reveal problems in these areas, there is a
high probability that these will never appear. However, some of the medical
problems that are present during the newborn period can persist through
childhood and/or adulthood. In addition, some medical problems may not be
present during the newborn period, but only emerge later.

If your child has reached childhood without evidence of a
congenital
heart defect, it is unlikely that any serious heart abnormality will now be
discovered or emerge. While heart disease is common in children with 22q
Deletion Syndrome, many children do not have any clinical symptoms. If your
child was diagnosed with a heart condition at birth or in infancy, you have
probably already become a relative expert on the heart related medical and
surgical considerations.

Velopharyngeal abnormalities are common in children with a 22q11
deletion. The abnormality might include an overt or sub-mucus cleft palate,
small adenoids, or palatal and/or pharyngeal muscle weakness. For most
children with an abnormality, there are no obvious visual signs that a
parent can detect. Symptoms that might be noticeable to parents are speech
difficulties (e.g., high nasal voice, speech articulation problems), or
feeding issues (e.g., difficulty swallowing, avoidance of food textures).
Cleft palate is often associated with ear anatomy abnormalities. The
combination of these anatomical abnormalities sometimes results in recurrent
ear infections and may lead to hearing loss.

During childhood, some children experience
growth delay or short stature.
While short stature is common in the general population, growth delays in
conjunction with a 22q11 deletion can sometimes be due to a treatable
hormonal irregularity.

Some children with 22q11 deletions have problems with their
kidneys
and/or urinary tract. Common problems include urinary tract infections,
bedwetting, and frequent urination. Kidney anomalies may include a single
kidney or an abnormally shaped kidney. A renal ultrasound can rule out this
possibility.

Hypotonia may continue to be an issue affecting gross and fine motor
skills. It may also be a contributing factor in feeding issues as well as
problems with constipation. Children may complain of difficulty going to the
bathroom or may avoid moving their bowels.
Constipation is commonly observed
in children with 22q Deletion Syndrome.

Calcium levels should continue to be monitored, and if low, treated.
Calcium is an important contributor to the health of many body systems
including skeletal, cardiac, and neurological. Occasionally, children with
22q11 deletions develop seizure disorders. If this is a concern for you,
your pediatrician may be able to help direct you to a specialist for
evaluation and treatment.

Children with 22q Deletion Syndrome may be at slightly higher risk to
develop
rheumatoid arthritis, a condition characterized by pain, swelling,
heat and redness of the joints. Any episodes of arthritis should be
mentioned to the child’s pediatrician.

Leg pains have also been associated with 22q Deletion Syndrome. However,
the cause of these pains is not well understood. Leg pains are not uncommon
for all children and may not be a cause for concern. However, if your child
is experiencing troubling pain, a consultation with your pediatrician might
be helpful.

Last Update 6-18-04

Who May be in a Medical Team?

A Pediatrician can perform several examinations and/or tests of your
child’s health. If any of these tests indicate the need for further follow
up, the pediatrician may refer your baby to a specialist. Some of the
specialists who may be involved in providing care are:

Cardiologist
Cardiologists are doctors who specialize in conditions of the heart and
vascular system. Routine examinations by a cardiologist include
listening carefully to heart sounds, performing an ultrasound for the
heart (echocardiogram), performing rhythm tests (ECG) and possibly
cardiac catheterization. Cardiologists provide medical treatment plans
and interventions when appropriate.

Craniofacial team
A plastic surgeon, a speech and language pathologist, an Ear Nose and
Throat specialist (ENT), and an audiologist (hearing specialist) can
help access the need for medical or surgical intervention.

Feeding specialist
Children with feeding difficulties may benefit from an evaluation and/or
assistance from a developmental pediatrician or feeding specialist.

Endocrinologist
A doctor who specializes in glands and hormones can assist in the
evaluation and care of children with persistent low calcium levels or
problems with growth (such as short stature).

Immunologist
A doctor who specializes in the body’s immune system and its ability to
fight infection can evaluate the status of immune difficulties for
children with recurrent infections.

Neurologist
A doctor who specializes in disorders of the nervous system can evaluate
the risk for seizures.

Last Update 06-18-04

Developmental Issues

Many
children with 22q11 deletions seem to have a unique developmental profile.
This profile often includes specific assets and deficits that both challenge
and motivate families. Recognizing areas of natural interest can help
motivate all children to work more effectively and with more enjoyment.
Determining areas of particular challenge may help parents identify
additional resources to support their child’s learning process.

Last Update 06-18-04

Developmental Issues: Early Childhood and Preschool

During
early childhood and in the preschool years, many of the developmental
concerns of
infancy have been more or less successfully addressed. Developmental
delays may continue into the preschool years, although some differences
are less visible in young children when compared to their peers. While some
or all of these concerns may still pose challenges, parents have usually
been able to identify strategies to manage successfully and to minimize
their impact on family life. At this time, families are often facing the
normal childhood challenges of toilet training, runny noses, and 1st
attempts at childhood jokes and riddles.

Many
families find early intervention beneficial from the newborn period until
age 3. Early intervention programs usually offer a nurturing environment for
families, helping parents to recognize and understand the developmental
needs of their child. They also offer a variety of techniques, tools, and
strategies to assist families in managing the developmental challenges
common with 22q11 Deletion Syndrome. Early intervention services can include
speech, physical, occupational, and individual and family therapy. Early
intervention programs are sponsored by the baby’s home
state. Services are
provided free of cost to the family. Parents can obtain early intervention
services through the pediatrician.

Whether
developmentally delayed or not, children with 22q11 Deletion Syndrome
continue to progress and attain skills, though at their own pace. Among the
more unique difficulties, children with 22q11 deletions may show signs of
expressive (what is said) and receptive (what is understood) language
delays. Speech and language skills are particularly challenging for many
preschool children with 22q11 Deletion Syndrome. Delays in sound making
skills, hearing impairment, attention deficits, and cognitive delays can all
contribute to a delay in language development.

It is common for
children with 22q11 Deletion Syndrome to have problems understanding social
rules and cues because they tend to have difficulty deciphering non-verbal
communication. Since 65% of human communications is nonverbal (such as
facial expressions and body language), a child who has trouble understanding
these cues can be at a disadvantage in social situations. In this case,
social skills and non-verbal cues need to be taught directly.

In
addition, children with 22q11 Deletion Syndrome sometimes experience
problems with coordination and balance. Gross motor (e.g., running, hopping,
jumping) and fine motor development (e.g., coloring, drawing) may be
especially challenging, as a result of low muscle tone. Low muscle tone may
affect a child’s stamina during the school day as well as his/her writing
ability.

Last Update 06-18-04

Developmental Issues: School Age

Once children
are school age, some areas of relative strength are verbal learning and
processing, auditory perception and memory, and rote learning. Some of the
more common difficulties are verbal and nonverbal processing, reading comprehension and
mathematics. Abstract reasoning can be particularly challenging, and
children with 22q11 Deletion Syndrome are often more successful in
environments where concrete thinking skills are stressed and systematic
instructions are provided. Neuroimaging studies support the fact that
specific changes in brain development and function are responsible for the
cognitive profile observed in individuals with 22q11 Deletion Syndrome
(e.g., difficulties in mathematical reasoning associated with parietal lobe
reduction and unusual patterns of brain activation in this posterior region
of the brain). For more onCognition
and Learning Styles, see an
excerpt
from our VCFS Educator's guide.

Delays can
sometimes become more apparent as children get older. Problems reading
social cues often become more apparent and your child may benefit from a
focused approach to teaching these skills. Helping teachers to understand
your child’s particular strengths and challenges as well as offering them
concrete examples of ways they can help your child to learn better can only
benefit your child’s learning process. Often, parents have noticed ways that
their child has naturally attempted to compensate for a deficit. If this
strategy has been even partially successful, it might be one to enhance and
modify for use in the classroom. Periodic developmental testing performed by
a trained neuropsychologist might also prove helpful. Appropriate learning
supports might include Speech/ language therapy, Physical therapy,
Occupational therapy, Education specialists, Math specialists/ tutors,
Reading specialists/ tutors. For more on Educational Considerations and Strategies, see an
excerpt
from our VCFS Educator's guide. Some families may find it useful to print
out a copy of the handbook and pass it onto their child's teacher.
Many parents have found a tool like this useful in communicating with
teachers about their child' needs.

Last Update 06-18-04

Social Issues: Common Concerns

Common toddler concerns such as sleep problem, separation anxiety, and fear
of the dark may be intensified and/or their resolution delayed. Toilet
training and the acquisition of bathroom skills may require more patience
and attention.

Last Update 06-18-04

Social Issues: Making Friends

Many parents have reported that
their children with 22q11 Deletion Syndrome tend to be shy or have
difficulties with separation. It may also be difficult for their
children to make new friends. Children with 22q11 Deletion Syndrome
often have less mobility in their faces and may show fewer of their
emotions through facial expressions. Therefore, it may be more
difficult for peers and adults to read and respond to the child’s
social and emotional cues. These cues can be easily misinterpreted
as disinterest and/or unresponsiveness.

Last Update 06-18-04

Social Issues: A Helping Hand

Working closely with your child’s
teacher can sometimes help. Once the teacher is more attuned to your
child’s concerns, the teacher can help to integrate a shy child in
other children’s play. Enrolling the child in extra-curricular
activities such as music or art clubs may help increase your child’s
opportunities for social interaction.
Speech therapy
can be helpful in improving your child’s social skills as they learn
how to better communicate with others. If your child seems worried,
upset, anxious, depressed or angry, contacting counseling resources
through your child’s school can be helpful.

Psychological, emotional and behavioral problem in
children with 22q11 Deletion Syndrome may be exaggerated often
secondary to speech/language, learning and communication struggles.
To various degrees, at least 70% of individuals will present some
problems during their development. Evaluation by a
professional is likely to be beneficial (reassuring or addressing
the needs.

Last Update 06-18-04

Social Issues: Family

Having a child with complex medical
needs may have an impact on all family members including siblings,
parents, grandparents, and extended family. Family members may have
concerns about a child’s diagnosis and how that diagnosis might
impact their own health and/or lives. Feelings of confusion, fear,
guilt, jealousy, anger, resentment, or embarrassment are common in
families of children with medical and/or genetic concerns. These
feelings are normal and families often benefit from openly
discussing these feelings. Sometimes a counselor can be helpful in
sorting out these feelings and can also offer valuable support.

Last Update 06-18-04

Social Issues: Talking With Your Child

When it is appropriate, parents may
want to talk about their child’s diagnosis with their other
children. Some parents report that it is easy to forget their
unaffected children. As all children have different needs, it is
important to maintain a balance between the needs of each child.
Setting aside special time for each child has been beneficial for
many families. Incorporating unaffected children in the care of
their brother or sister may also be helpful. A number of community
and internet organizations provide ideas and information on sibling
issues (see Sibling Support Project in the Get Informed section
on the What Can I Do page).

Last Update 06-18-04

Social Issues: Networking

Having a child with a medical and/or
genetic diagnosis can feel socially isolating for a family. While
close friends and extended family members may try their best to be
helpful and accepting, there are significant limitations to their
ability to truly understand your family’s experience. Many families
have found that having contact with at least one other family who
has the same diagnosis can be beneficial. Some families find that
participating in local, regional and/or national organizations has
been transforming to their experience. Participation is not for
everyone. Every family must determine for itself the right time,
amount, and type of participation (for options, see the
What can
I do? page).

The demands of caring for medically
complex children can introduce, and/or significantly exaggerate
already existing, strains on a family’s emotional resources. Many
families have told us that talking openly about all the normal and
varied concerns, fears, and confusion can be helpful. Contact with
other families, diagnosis specific support groups, and/or counselors
or therapists can aid in reducing these strains. Sharing educational
or medical providers with other families may help encourage these
providers to become better informed. For more on this topic, see an
excerpt
from Selecting Your Team from the
What can
I do? page.

Last Update 06-18-04

Social Issues: Financial Strategies

The medical care of a child with complex medical
needs can result in high expenses. Many parents have trouble meeting
these expenses. Some states provide financial assistance for the
health care of children with disabilities. Check with your state’s
Department of Public Health for more information about the services
and resources offered by your state. The
Supplemental Security Income (SSI) is a federally funded
financial assistance program for low-income children with
disabilities. In some states, but not all, children qualify for
Medicaid Insurance coverage. For more information, go to the
SSI website.